Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs9371601
rs9371601 		0.790 0.120 6 152469438 intron variant G/T snv 0.46
CUI: C0236773
Disease: Depressed bipolar I disorder
Depressed bipolar I disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs1554768245
rs1554768245 		0.807 0.160 6 152472395 frameshift variant C/- delins
CUI: C1854699
Disease: Diffuse cerebellar atrophy
Diffuse cerebellar atrophy 		0.700 0
dbSNP: rs886042380
rs886042380 		0.925 0.120 6 152334218 frameshift variant T/- delins
CUI: C2751807
Disease: Emery-Dreifuss Muscular Dystrophy 4
Emery-Dreifuss Muscular Dystrophy 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2007 2013
dbSNP: rs1564367104
rs1564367104 		0.925 0.120 6 152483215 frameshift variant GA/- delins
CUI: C2751807
Disease: Emery-Dreifuss Muscular Dystrophy 4
Emery-Dreifuss Muscular Dystrophy 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs119103246
rs119103246 		1.000 0.120 6 152151987 missense variant C/T snv 4.0E-06
CUI: C2751807
Disease: Emery-Dreifuss Muscular Dystrophy 4
Emery-Dreifuss Muscular Dystrophy 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 0
dbSNP: rs119103247
rs119103247 		1.000 0.120 6 152141290 missense variant C/A;T snv 8.0E-06
CUI: C2751807
Disease: Emery-Dreifuss Muscular Dystrophy 4
Emery-Dreifuss Muscular Dystrophy 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs119103248
rs119103248 		1.000 0.120 6 152140027 missense variant C/T snv 6.7E-04 8.2E-04
CUI: C2751807
Disease: Emery-Dreifuss Muscular Dystrophy 4
Emery-Dreifuss Muscular Dystrophy 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 0
dbSNP: rs1554451078
rs1554451078 		1.000 0.120 6 152325174 stop gained C/T snv
CUI: C2751807
Disease: Emery-Dreifuss Muscular Dystrophy 4
Emery-Dreifuss Muscular Dystrophy 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs606231134
rs606231134 		0.925 0.120 6 152321898 intron variant T/C snv 3.2E-05 3.5E-05
CUI: C2751807
Disease: Emery-Dreifuss Muscular Dystrophy 4
Emery-Dreifuss Muscular Dystrophy 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs746328978
rs746328978 		0.925 0.120 6 152308620 stop gained G/A;T snv 8.4E-06
CUI: C2751807
Disease: Emery-Dreifuss Muscular Dystrophy 4
Emery-Dreifuss Muscular Dystrophy 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs746438011
rs746438011 		0.882 0.120 6 152430672 missense variant A/G;T snv 1.2E-05
CUI: C2751807
Disease: Emery-Dreifuss Muscular Dystrophy 4
Emery-Dreifuss Muscular Dystrophy 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs910956017
rs910956017 		0.925 0.120 6 152269178 stop gained G/A snv 4.0E-06
CUI: C2751807
Disease: Emery-Dreifuss Muscular Dystrophy 4
Emery-Dreifuss Muscular Dystrophy 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs17803970
rs17803970 		1.000 0.040 6 152232583 intron variant A/T snv 7.1E-02
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2017 2017
dbSNP: rs71575922
rs71575922 		0.925 0.040 6 152232879 intron variant C/G snv 0.12
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2017 2017
dbSNP: rs17082463
rs17082463 		6 152320256 intron variant A/G snv 4.5E-02
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs59071593
rs59071593 		6 152315899 3 prime UTR variant A/T snv 4.5E-02
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs73783833
rs73783833 		6 152322700 intron variant C/T snv 4.5E-02
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs75556600
rs75556600 		6 152317347 intron variant C/T snv 3.9E-02
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs7741183
rs7741183 		6 152320521 intron variant C/T snv 6.9E-02
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs1554768245
rs1554768245 		0.807 0.160 6 152472395 frameshift variant C/- delins
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1554768245
rs1554768245 		0.807 0.160 6 152472395 frameshift variant C/- delins
CUI: C1853394
Disease: Gaze-evoked horizontal nystagmus
Gaze-evoked horizontal nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554768245
rs1554768245 		0.807 0.160 6 152472395 frameshift variant C/- delins
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554768245
rs1554768245 		0.807 0.160 6 152472395 frameshift variant C/- delins
CUI: C1854489
Disease: Limb dysmetria
Limb dysmetria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs9371601
rs9371601 		0.790 0.120 6 152469438 intron variant G/T snv 0.46
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.800 1.000 2 2013 2013
dbSNP: rs169974
rs169974 		1.000 0.040 6 152454097 intron variant T/C snv 0.52
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2013 2013